L43C (p.Leu43Cys) variant of COQ8A (Q8NI60)
L43C (p.Leu43Cys) in COQ8A (Q8NI60) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L43C (p.Leu43Cys) variant details
- p.Leu43Cys
- rs754586499
- gnomAD 1-226961509-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 26.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available